American Journal of Medical Genetics

Publication date: 1996-12
Volume: 66 Pages: 52 -
ISSN: 0148-7299, 1096-8628 PMID: 8957511
DOI: 10.1002/(SICI)1096-8628(19961202)66:1< /52::AID-AJMG11>3.0.CO;2-P
Publisher: Wiley-Liss

Author:

Seftel, MD
Wright, CA ; Po, PL ; de Ravel de l'Argentière, Thomy

Keywords:

Clavicle, Humans, Hypospadias, Infant, Newborn, Male, Mandible, Syndrome, 1103 Clinical Sciences, 0604 Genetics

Abstract:

We report on a case of lethal neonatal mandibuloacral dysplasia. Large confluent fontanelles, sparse fine hair and eyebrows, pseudo-exophthalmos, micrognathia, bulbar digits, and short clavicles were present. In addition, we describe for the first time the presence of glandular hypospadias in this disorder. We propose that this neonatally lethal case represents severe expression of mandibuloacral dysplasia.